Table 1. Analytes with significant perturbations between in SLC13A5 deficient subjects and controls.

Analyte name, median centered, log-transformed values for each subject, as well as mean value for subjects and controls is shown with p-value and false discovery rate for (A) CSF, (B) plasma, and (C) urine. Unknown analytes and drug metabolism analytes excluded. Under Fold Diff column, green indicates relative elevation in patients while blue indicates relative decrease.

A. CSF
COMPOUND	Pathway	A1	A2	B1	Subject Avg	Control Avg	Fold Diff	FDR
beta-hydroxyisovaleroylcarnitine	Amino Acid	0.80	0.73	0.76	0.76	−0.03	1.73	5.81E-17
S-1-pyrroline-5-carboxylate		1.87	1.47	1.61	1.65	0.71	1.92	6.74E-03
acisoga		−1.50	−1.09	−1.50	−1.36	−0.03	0.40	9.25E-03
cystathionine		−0.14	−0.14	0.22	−0.02	−0.93	1.88	9.25E-03
N-acetylasparagine		0.58	0.31	0.38	0.43	−0.18	1.53	4.04E-02
imidazole propionate		−0.01	0.00	−0.01	−0.01	0.66	0.63	4.18E-02
erythronate	Carbohydrate	0.65	0.41	0.55	0.53	−0.10	1.55	4.18E-02
isocitrate	Energy	1.22	1.21	1.21	1.21	0.22	1.99	3.56E-07
2-methylcitrate		1.28	1.01	1.15	1.15	−0.66	3.51	4.11E-07
citrate		0.64	0.71	0.92	0.76	−0.84	3.03	2.42E-05
aconitate		−0.20	−0.14	0.13	−0.07	−1.23	2.23	3.03E-04
malonate	Lipid	0.41	0.52	0.46	0.46	−1.01	2.77	5.81E-17
3-hydroxybutyrate (BHBA)		−2.51	−2.79	−2.94	−2.75	−0.68	0.24	9.28E-07
1-arachidonoyl-GPE		−1.19	−1.19	−1.19	−1.19	−0.28	0.53	9.64E-06
1,2-dioleoyl-GPC		0.83	0.56	0.75	0.71	−0.15	1.82	4.90E-04
3-hydroxyoctanoate		−0.95	−0.96	−0.85	−0.92	−0.35	0.67	1.16E-03
phosphocholine		−0.54	−0.45	−0.64	−0.54	−0.03	0.70	1.33E-03
1-stearoyl-2-linoleoyl-GPC		0.48	0.14	0.52	0.38	−0.66	2.06	6.22E-03
3-aminoisobutyrate	Nucleotide	−1.61	−1.62	−1.27	−1.50	−0.36	0.45	1.16E-03
N6-succinyladenosine		1.65	1.11	1.48	1.41	−0.23	3.12	4.96E-03
succinimide	Xenobiotics	−1.72	−1.71	−1.73	−1.72	−0.24	0.36	3.94E-13
trizma acetate		0.61	0.62	0.76	0.66	−0.42	2.11	1.04E-03
tartarate		0.69	0.91	0.73	0.78	0.12	1.58	1.16E-03
7-methylxanthine		−0.01	−0.01	0.00	−0.01	0.72	0.60	1.79E-02
S-allylcysteine		−0.01	−0.01	−0.01	−0.01	0.77	0.58	3.91E-02

B. Plasma
COMPOUND	Pathway	A1	A2	B1	C1	C2	Subject Avg	Control Avg	Fold Diff	FDR
pyroglutamine	Amino Acid	1.84	1.93	1.67	1.01	2.06	1.7	0.24	0.53	0.006
N-6-trimethyllysine		−0.35	−0.04	−0.23	−0.34	−0.21	−0.23	0.15	0.76	0.03
eicosanodioate	Lipid	−1.32	−0.76	−1.21	−0.34	−1.22	−1.34	−0.26	0.53	0.003
citrate	TCA Cycle	1.69	1.21	2.14	1.21	1.74	1.6	−0.04	3.10	0.02

C. Urine
COMPOUND	Pathway	A1	A2	B1	C1	Subject Avg	Control Avg	Fold Diff	FDR
16a-hydroxy DHEA 3-sulfate	Steroid	4.46	N/D	3.99	3.82	4.09	0.75	10.16	2.E-05
lactate	Pyruvate	−1.89	−1.06	−1.90	−1.11	−1.49	0.27	0.29	0.04
fumarate	TCA Cycle	−1.68	−1.69	−2.83	−1.57	−1.94	0.13	0.23	0.05

N/D: Not detected